نتایج جستجو برای: y polymorphisms

تعداد نتایج: 560033  

Actins play essential roles in cellular morphogenesis. In mice, the t-actin 1 and 2 genes, which encode actin-like proteins, are specifically expressed in haploid germ cells. Both T-ACTIN 1/ACTLB and T-ACTIN 2/ACTL7A have also been cloned as orthologous genes in humans; they are present on chromosome 9q31.3 as intronless genes. Defects of germ cell-specific genes can introduce infertility witho...

2011
Carolina Núńez Cecilia Sosa Miriam Baeta Maria Geppert Meredith Turnbough Nicole Phillips Yolanda Casalod Miguel Bolea Rhonda Roby Bruce Budowle Begońa Martínez-Jarreta

AIM To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees. METHODS Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y ...

Journal: :American journal of human genetics 1986
A de la Chapelle D C Page L Brown U Kaski T Parvinen P A Tippett

Maleness in association with the karyotype 45,X is a very rare and hitherto unexplained condition previously described in only four or five patients. This study was carried out to determine whether such males might actually possess Y-chromosomal material. Of the two 45,X males studied, one was found to be a low-grade mosaic with a 46,XY karyotype in less than 3% of fibroblasts; all lymphocytes ...

Journal: :Genetics 2013
Alan T Branco Daniel L Hartl Bernardo Lemos

Chromatin remodeling is crucial for gene regulation. Remodeling is often mediated through chemical modifications of the DNA template, DNA-associated proteins, and RNA-mediated processes. Y-linked regulatory variation (YRV) refers to the quantitative effects that polymorphic tracts of Y-linked chromatin exert on gene expression of X-linked and autosomal genes. Here we show that naturally occurri...

Journal: :Genomics 2004
Sjoerd Repping Saskia K M van Daalen Cindy M Korver Laura G Brown Janet D Marszalek Judith Gianotten Robert D Oates Sherman Silber Fulco van der Veen David C Page Steve Rozen

The human Y chromosome is replete with amplicons-very large, nearly identical repeats-which render it susceptible to interstitial deletions that often cause spermatogenic failure. Here we describe a recurrent, 1.8-Mb deletion that removes half of the azoospermia factor c (AZFc) region, including 12 members of eight testis-specific gene families. We show that this "b2/b3" deletion arose at least...

Journal: :Human molecular genetics 1992
A J O'Reilly N A Affara E Simpson P Chandler E Goulmy M A Ferguson-Smith

41 Y-linked DNA probes that detect sequences on the Y chromosome long arm have been used to analyse genomic DNA from a series of 23 patients with deletions of Yq. Southern blot analysis has differentiated 15 distinct breakpoints, which divide Yq into 14 mapping intervals. From the pattern of DNA sequences present in each patient, it has been possible to produce a congruent deletion map, with th...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم انسانی 1387

در مطالعه حاضر دو پلی مرفیسم تک نوکلئوتیدی single nucleotide polymorphisms;(snps) در نواحی t129c در اگزون 1 و t1236c در اگزون 12 ، ژن mdr1 در 200 بیمار مصروع ایرانی ( شامل دو گروه بیماران مصروع مقاوم به دارودرمانی و بیماران مصروع پاسخ دهنده به درمان دارویی، هر گروه 100 نفر) در کنار 100 نفر سالم به روشrflp pcr- مورد بررسی و تعیین ژنوتیپ قرار گرفت و فراوانی ژنوتیپ و هاپلوتیپی در این سه دسته مقایس...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005
Danica R Skibola Martyn T Smith Paige M Bracci Alan E Hubbard Luz Agana Shawn Chi Elizabeth A Holly

We previously reported a positive association among body mass index, single nucleotide polymorphisms (SNP) in the leptin and leptin receptor genes that are involved in body weight regulation, and non-Hodgkin lymphoma (NHL). Polymorphisms in the ghrelin (GHRL) and neuropeptide Y (NPY) genes were examined in the same population-based case-control study of NHL to further explore the role of genes ...

Journal: :Genetics 1992
J M Martín-Campos J M Comerón N Miyashita M Aguadé

A 2.2-kb region including the ac gene of Drosophila simulans has been sequenced. Interspecific divergence between Drosophila melanogaster and D. simulans was estimated as 0.0695 and 0.0558 for silent and for all sites, respectively. Estimated silent site divergence for the ac region is comparable to that estimated for other regions of the genome between these species, indicating that silent sit...

Journal: :American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006
Christelle M Durand Caroline Kappeler Catalina Betancur Richard Delorme Hélène Quach Hany Goubran-Botros Jonas Melke Gudrun Nygren Nadia Chabane Franck Bellivier Andrei Szoke Franck Schurhoff Maria Rastam Henrik Anckarsäter Christopher Gillberg Marion Leboyer Thomas Bourgeron

Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the ge...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید